-
Je něco špatně v tomto záznamu ?
Types of congenital nonsyndromic ichthyoses
B. Pinkova, H. Buckova, R. Borska, L. Fajkusova
Jazyk angličtina Země Česko
Typ dokumentu časopisecké články, přehledy
NLK
Directory of Open Access Journals
od 2001
Free Medical Journals
od 1998
Medline Complete (EBSCOhost)
od 2007-06-01
ROAD: Directory of Open Access Scholarly Resources
od 2001
PubMed
33087941
DOI
10.5507/bp.2020.050
Knihovny.cz E-zdroje
- MeSH
- dítě MeSH
- erythrodermia ichthyosiformis congenita klasifikace diagnóza genetika terapie MeSH
- genetická predispozice k nemoci * MeSH
- ichtyóza vázaná na chromozom X diagnóza genetika patofyziologie terapie MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- molekulární biologie * MeSH
- mutace * MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- určení symptomu MeSH
- věkové faktory MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types vary as the patient ages. Currently, the diagnosis of congenital ichthyoses is based on molecular analysis, which also allows a complete genetic counseling and genetic prevention. It is appropriate to refer the patients to specialized medical centers, where the cooperation of a neonatologist, a pediatric dermatologist, a geneticist and other specialists is ensured.
Citace poskytuje Crossref.org
Literatura
- 000
- 00000naa a2200000 a 4500
- 001
- bmc21023708
- 003
- CZ-PrNML
- 005
- 20211104134120.0
- 007
- ta
- 008
- 211005s2020 xr f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.5507/bp.2020.050 $2 doi
- 035 __
- $a (PubMed)33087941
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xr
- 100 1_
- $a Pinková, Blanka $7 xx0230480 $u Children's Dermatological Department of the Paediatric Clinic, Faculty of Medicine, Masaryk University and University Hospital Brno, Czech Republic
- 245 10
- $a Types of congenital nonsyndromic ichthyoses / $c B. Pinkova, H. Buckova, R. Borska, L. Fajkusova
- 504 __
- $a Literatura
- 520 9_
- $a Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types vary as the patient ages. Currently, the diagnosis of congenital ichthyoses is based on molecular analysis, which also allows a complete genetic counseling and genetic prevention. It is appropriate to refer the patients to specialized medical centers, where the cooperation of a neonatologist, a pediatric dermatologist, a geneticist and other specialists is ensured.
- 650 _2
- $a mladiství $7 D000293
- 650 _2
- $a věkové faktory $7 D000367
- 650 _2
- $a dítě $7 D002648
- 650 _2
- $a předškolní dítě $7 D002675
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 12
- $a genetická predispozice k nemoci $7 D020022
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a erythrodermia ichthyosiformis congenita $x klasifikace $x diagnóza $x genetika $x terapie $7 D016113
- 650 _2
- $a ichtyóza vázaná na chromozom X $x diagnóza $x genetika $x patofyziologie $x terapie $7 D016114
- 650 _2
- $a kojenec $7 D007223
- 650 _2
- $a novorozenec $7 D007231
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 12
- $a molekulární biologie $7 D008967
- 650 12
- $a mutace $7 D009154
- 650 _2
- $a určení symptomu $7 D063189
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a přehledy $7 D016454
- 700 1_
- $a Bučková, Hana, $d 1952- $7 jn20010309695 $u Children's Dermatological Department of the Paediatric Clinic, Faculty of Medicine, Masaryk University and University Hospital Brno, Czech Republic
- 700 1_
- $a Borská, Romana $7 xx0195123 $u Center of Molecular Biology and Gene Therapy IHOK University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic Corresponding author: Blanka Pinkova, e-mail
- 700 1_
- $a Fajkusová, Lenka, $d 1963- $7 xx0062747 $u Center of Molecular Biology and Gene Therapy IHOK University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic Corresponding author: Blanka Pinkova, e-mail
- 773 0_
- $w MED00012606 $t Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia $x 1213-8118 $g Roč. 164, č. 4 (2020), s. 357-365
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/33087941 $y Pubmed
- 910 __
- $a ABA008 $b A 1502 $c 958 $y p $z 0
- 990 __
- $a 20211005 $b ABA008
- 991 __
- $a 20211007161540 $b ABA008
- 999 __
- $a ok $b bmc $g 1718896 $s 1144202
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2020 $b 164 $c 4 $d 357-365 $e 20201021 $i 1213-8118 $m Biomedical papers of the Medical Faculty of the University Palacký, Olomouc Czech Republic $n Biomed. Pap. Fac. Med. Palacký Univ. Olomouc Czech Repub. (Print) $x MED00012606
- LZP __
- $b NLK118 $a Pubmed-20211005